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The MAPT p.A152T variant is a risk factor associated with tauopathies with atypical clinical and neuropathological features.
Kara E, Ling H, Pittman AM, Shaw K, de Silva R, Simone R, Holton JL, Warren JD, Rohrer JD, Xiromerisiou G, Lees A, Hardy J, Houlden H, Revesz T. Kara E, et al. Among authors: de silva r. Neurobiol Aging. 2012 Sep;33(9):2231.e7-2231.e14. doi: 10.1016/j.neurobiolaging.2012.04.006. Epub 2012 May 16. Neurobiol Aging. 2012. PMID: 22595371 Free PMC article.
MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies.
Trabzuni D, Wray S, Vandrovcova J, Ramasamy A, Walker R, Smith C, Luk C, Gibbs JR, Dillman A, Hernandez DG, Arepalli S, Singleton AB, Cookson MR, Pittman AM, de Silva R, Weale ME, Hardy J, Ryten M. Trabzuni D, et al. Among authors: de silva r. Hum Mol Genet. 2012 Sep 15;21(18):4094-103. doi: 10.1093/hmg/dds238. Epub 2012 Jun 20. Hum Mol Genet. 2012. PMID: 22723018 Free PMC article.
Linkage disequilibrium fine mapping and haplotype association analysis of the tau gene in progressive supranuclear palsy and corticobasal degeneration.
Pittman AM, Myers AJ, Abou-Sleiman P, Fung HC, Kaleem M, Marlowe L, Duckworth J, Leung D, Williams D, Kilford L, Thomas N, Morris CM, Dickson D, Wood NW, Hardy J, Lees AJ, de Silva R. Pittman AM, et al. Among authors: de silva r. J Med Genet. 2005 Nov;42(11):837-46. doi: 10.1136/jmg.2005.031377. Epub 2005 Mar 25. J Med Genet. 2005. PMID: 15792962 Free PMC article.
Tangle diseases and the tau haplotypes.
Hardy J, Pittman A, Myers A, Fung HC, de Silva R, Duckworth J. Hardy J, et al. Among authors: de silva r. Alzheimer Dis Assoc Disord. 2006 Jan-Mar;20(1):60-2. doi: 10.1097/01.wad.0000201853.54493.d8. Alzheimer Dis Assoc Disord. 2006. PMID: 16493238
Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability.
Shaw-Smith C, Pittman AM, Willatt L, Martin H, Rickman L, Gribble S, Curley R, Cumming S, Dunn C, Kalaitzopoulos D, Porter K, Prigmore E, Krepischi-Santos AC, Varela MC, Koiffmann CP, Lees AJ, Rosenberg C, Firth HV, de Silva R, Carter NP. Shaw-Smith C, et al. Among authors: de silva r. Nat Genet. 2006 Sep;38(9):1032-7. doi: 10.1038/ng1858. Epub 2006 Aug 13. Nat Genet. 2006. PMID: 16906163
The MAPT H1c risk haplotype is associated with increased expression of tau and especially of 4 repeat containing transcripts.
Myers AJ, Pittman AM, Zhao AS, Rohrer K, Kaleem M, Marlowe L, Lees A, Leung D, McKeith IG, Perry RH, Morris CM, Trojanowski JQ, Clark C, Karlawish J, Arnold S, Forman MS, Van Deerlin V, de Silva R, Hardy J. Myers AJ, et al. Among authors: de silva r. Neurobiol Dis. 2007 Mar;25(3):561-70. doi: 10.1016/j.nbd.2006.10.018. Epub 2006 Dec 15. Neurobiol Dis. 2007. PMID: 17174556
614 results